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Entry
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- *607261 - EVC CILIARY COMPLEX SUBUNIT 2; EVC2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607261</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607261">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000173040;t=ENST00000344408" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=132884" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=607261" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000173040;t=ENST00000344408" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001166136,NM_147127,XM_017007736,XM_017007738,XM_047449610,XM_047449611,XM_047449612" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_147127" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=607261" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06269&isoform_id=06269_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/EVC2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/22036115,27542555,27542557,30230330,38257827,63995322,63996059,93277096,119602818,119602819,119602820,260763994,701167960,1034638411,1034638416,2217348880,2217348883,2217348885,2462594922,2462594924,2462594926,2462594928,2462594930" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q86UK5" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=132884" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000173040;t=ENST00000344408" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=EVC2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=EVC2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+132884" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/EVC2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:132884" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/132884" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000344408.10&hgg_start=5529011&hgg_end=5709548&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:19747" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/evc2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607261[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607261[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/EVC2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000173040" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=EVC2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EVC2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EVC2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EVC2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134989044" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:19747" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1915775" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/EVC2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1915775" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/132884/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002540/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=132884" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:132884" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=EVC2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 277807007, 62501005<br />
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<strong>ICD10CM:</strong> Q77.6<br />
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<strong>ICD9CM:</strong> 756.55<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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607261
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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EVC CILIARY COMPLEX SUBUNIT 2; EVC2
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
LIMBIN; LBN
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EVC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EVC2</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/65?start=-3&limit=10&highlight=65">4p16.2</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:5529011-5709548&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:5,529,011-5,709,548</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=225500,193530" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/65?start=-3&limit=10&highlight=65">
|
|
4p16.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ellis-van Creveld syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/225500"> 225500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Weyers acrofacial dysostosis
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/193530"> 193530 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>EVC (<a href="/entry/604831">604831</a>) and EVC2 are single-pass type I transmembrane proteins. They constitutively associate with each other in a ring-like pattern near the ciliary transition zone, a protein barrier between the ciliary and plasma membranes. EVC and EVC2 function by transducing extracellular signals to the nucleus via the hedgehog (see SHH, <a href="/entry/600725">600725</a>) signaling pathway (<a href="#5" class="mim-tip-reference" title="Dorn, K. V., Hughes, C. E., Rohatgi, R. <strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong> Dev. Cell 23: 823-835, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2012.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22981989">Dorn et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al. (2002)</a> identified a bovine gene, which they called limbin (Lbn), that is expressed in the epiphyseal growth plates of long bone. By cDNA cloning, RT-PCR, and RACE, <a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al. (2002)</a> isolated the human and mouse LBN genes. The predicted 1,228-amino acid human protein and the 1,220-amino acid mouse protein share 79% and 68% homology with the bovine lbn protein, respectively. A putative transmembrane domain, 2 coiled-coil domains, and 3 nuclear localization signals are conserved between the human, mouse, and bovine proteins. Northern blot analysis of mouse tissues detected a 4.5-kb transcript in long bone, cranial bone, kidney, and heart, and expression was detected in embryos at days 7, 11, 15, and 17. In situ hybridization revealed strong expression of Lbn in limb buds of developing mouse embryos and in proliferating chondrocytes and bone-forming osteoblasts in long bones. <a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al. (2002)</a> concluded that LBN has an essential role in skeletal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12136126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a> independently cloned the EVC2 gene and found that the transcription start sites of EVC and EVC2 are separated by only 1,643 basepairs. Northern blot analysis of EVC2 showed a single major band of 4.8 kb in heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas. A transcript of 4.8 kb was also found by RT-PCR in lymphoblasts and chondrocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a> determined that the EVC2 gene contains of 23 exons. There are at least 3 alternate transcription start sites, and exon 1 is not translated, with the first ATG of the open reading frame occurring in exon 2. There are 2 transcripts with alternative 3-prime ends, one including exon 22A and the other including exons 22B and 23B. Exons 16 and 18 are also subject to alternative splicing and have tissue-specific shorter and longer versions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al. (2002)</a> mapped the EVC2 gene to chromosome 4p16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12136126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found that the EVC and EVC2 genes are arranged in a divergent configuration with transcription start sites separated by 2,624 bp in the human and 1,647 bp in mouse. <a href="#1" class="mim-tip-reference" title="Adachi, N., Lieber, M. R. <strong>Bidirectional gene organization: a common architectural feature of the human genome.</strong> Cell 109: 807-809, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12110178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12110178</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)00758-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12110178">Adachi and Lieber (2002)</a> had concluded that such head-to-head configurations may be a common feature of the human genome. <a href="#13" class="mim-tip-reference" title="Shimada, T., Fujii, H., Lin, H. <strong>A 165-base pair sequence between the dihydrofolate reductase gene and the divergently transcribed upstream gene is sufficient for bidirectional transcriptional activity.</strong> J. Biol. Chem. 264: 20171-20174, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2584212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2584212</a>]" pmid="2584212">Shimada et al. (1989)</a> and <a href="#9" class="mim-tip-reference" title="Platzer, M., Rotman, G., Bauer, D., Uziel, T., Savitsky, K., Bar-Shira, A., Gilad, S., Shiloh, Y., Rosenthal, A. <strong>Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.</strong> Genome Res. 7: 592-605, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9199932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9199932</a>] [<a href="https://doi.org/10.1101/gr.7.6.592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9199932">Platzer et al. (1997)</a> gave examples of coregulation by a single promoter with bidirectional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12571802+9199932+12110178+2584212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found no obvious similarities between EVC and EVC2, and, other than the predicted transmembrane domains, there were no motifs giving clues to their function. <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> pointed out that EVC and EVC2 lie within a syntenic region with conserved gene order and transcription orientation encompassing NSG1 (<a href="/entry/607645">607645</a>), STX18 (<a href="/entry/606046">606046</a>), MSX1 (<a href="/entry/142983">142983</a>), and C17. The gene encoding collapsin response mediator protein-1 (CRMP1; <a href="/entry/602462">602462</a>) lies immediately adjacent to the EVC gene on the opposite side of EVC2 where its 3-prime end overlaps with the 3-prime end of EVC, i.e., in tail-to-tail orientation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W. <strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong> Hum. Molec. Genet. 18: 1813-1824, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251731">Sund et al. (2009)</a> carried out in situ hybridization and immunofluorescence studies in mouse tissues and whole embryos and found colocalization of Evc and Evc2 mRNA and protein. In developing mouse heart, expression was strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. There was no evidence of direct transcriptional interregulation between the 2 genes. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, <a href="#14" class="mim-tip-reference" title="Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W. <strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong> Hum. Molec. Genet. 18: 1813-1824, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19251731">Sund et al. (2009)</a> speculated that these proteins may function coordinately in cardiac development and that loss of this coordinate function may result in the characteristics of Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19251731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse fibroblasts, <a href="#5" class="mim-tip-reference" title="Dorn, K. V., Hughes, C. E., Rohatgi, R. <strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong> Dev. Cell 23: 823-835, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2012.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22981989">Dorn et al. (2012)</a> found that knockdown of Evc2 did not affect cilia formation but inhibited activated Shh induction of Gli1 (<a href="/entry/165220">165220</a>), which is a direct hedgehog (Hh) target. Knockdown of Evc2 also blocked Hh-induced differentiation of mouse mesenchymal cells into osteoblasts. C-terminal truncation of Evc2 or mutation of a phe-val (FV) motif near the C terminus abrogated targeting of Evc2 to the base of cilia, caused redistribution of Evc2 along the entire length of the ciliary membrane, and functioned as a dominant-negative inhibitor of Hh signaling. Upon Hh activation, Evc2 and Evc also transiently interacted with activated Smo (SMOH; <a href="/entry/601500">601500</a>), a transducer of Hh signaling. Knockdown of Evc2 blunted Smo-dependent recruitment of downstream Sufu (<a href="/entry/607035">607035</a>) and Gli proteins to the tips of primary cilia. <a href="#5" class="mim-tip-reference" title="Dorn, K. V., Hughes, C. E., Rohatgi, R. <strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong> Dev. Cell 23: 823-835, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2012.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22981989">Dorn et al. (2012)</a> concluded that EVC proteins are transducers of Hh signals and further hypothesized that mutations in these proteins that are associated with EVC syndrome are nonfunctional because they fail to localize to cilia. In contrast, truncating mutations linked to Weyers acrofacial dysostosis (<a href="/entry/193530">193530</a>) interfere in a dominant-negative manner with Hh signaling because truncated proteins mislocalize throughout the ciliary membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Independently, <a href="#2" class="mim-tip-reference" title="Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L. <strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong> Hum. Molec. Genet. 22: 124-139, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23026747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23026747</a>] [<a href="https://doi.org/10.1093/hmg/dds409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23026747">Caparros-Martin et al. (2013)</a> found that mouse Evc and Evc2 coimmunoprecipitated with Smo following Hh activation in transfected HEK293 cells. The 3 proteins colocalized at the base of cilia following Hh activation. Complexes containing C-terminally truncated Evc2 also interacted with Smo, but they were abnormally distributed along the entire length of the cilium in the presence or absence of Hh activation and inhibited Hh signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23026747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse NIH 3T3 cells <a href="#10" class="mim-tip-reference" title="Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R. <strong>EFCAB7 and IQCE regulate Hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.</strong> Dev. Cell 28: 483-496, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24582806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24582806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24582806[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2014.01.021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24582806">Pusapati et al. (2014)</a> found that Iqce (<a href="/entry/617632">617632</a>) coimmunoprecipitated with Efcab7 (<a href="/entry/617631">617631</a>), Evc, and Evc2. The tetramer was made up of Iqce-Efcab7 and Evc-Evc2 subcomplexes, and the subcomplexes were linked via an Efcab7-Evc2 bridge. In the absence of Iqce and Efcab7, Evc and Evc2 mislocalized from the base of cilia, dispersed throughout the ciliary membrane, and failed to propagate a Hedgehog signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24582806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Ellis-van Creveld syndrome of Ashkenazi Jewish origin, <a href="#6" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a> identified 2 homozygous mutations in the EVC2 gene; see <a href="#0007">607261.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> identified an individual with Ellis-van Creveld syndrome in a consanguineous Gypsy pedigree who had a shorter region of homozygosity, excluding MSX1, and did not have an EVC mutation. Examination of the human and mouse databases showed several genes of particular interest in the narrowed critical region identified by study of the Gypsy family. Of particular interest among the genes in the critical region was EVC2, mutated in its bovine homolog in bovine chondrodysplastic dwarfism (<a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al., 2002</a>). <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> performed 5-prime RACE in adult human kidney RNA, using gene-specific primers. The RACE product, confirmed by RT-PCR, showed an additional GC-rich exon containing an in-frame AUG with loss of the open reading frame 21 nucleotides upstream. This additional sequence had homology to the N-terminus of the murine ortholog. <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> aligned the extended cDNA against the human genome sequence to design primers to amplify the 22 coding exons in 7 consanguineous probands. They found 5 truncating mutations and a missense change in the EVC2 gene. In the seventh consanguineous pedigree, they identified no mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12571802+12136126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Ye, X., Song, G., Fan, M., Shi, L., Jabs, E. W., Huang, S., Guo, R., Bian, Z. <strong>A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.</strong> Hum. Genet. 119: 199-205, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16404586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16404586</a>] [<a href="https://doi.org/10.1007/s00439-005-0129-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16404586">Ye et al. (2006)</a> identified a heterozygous 1-bp deletion in exon 22 of the EVC2 gene (3793delC; <a href="#0009">607261.0009</a>) in affected members of a Chinese family with autosomal dominant Weyers acrofacial dysostosis (WAD; <a href="/entry/193530">193530</a>) spanning 5 generations. The findings confirmed that the disorder is allelic to Ellis-van Creveld syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16404586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-year-old Chinese girl with mild Ellis-van Creveld syndrome, <a href="#12" class="mim-tip-reference" title="Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H. <strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong> Am. J. Med. Genet. 155A: 2131-2136, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>] [<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815252">Shen et al. (2011)</a> identified compound heterozygosity for a splice site and a missense mutation in the EVC2 gene (<a href="#0010">607261.0010</a>-<a href="#0011">607261.0011</a>). The authors noted that all 3 Weyers acrofacial dysostosis-associated mutations reported to date were located in exon 22 of EVC2, whereas this patient's mutations were in IVS5 and exon 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Antonio, P. A., Temtamy, S., Aglan, M., Goodship, J. A., Ruiz-Perez, V. L. <strong>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.</strong> Hum. Mutat. 30: 1667-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19810119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19810119</a>] [<a href="https://doi.org/10.1002/humu.21117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19810119">Valencia et al. (2009)</a> performed direct analysis of the EVC and EVC2 genes in 3 patients with Weyers acrofacial dysostosis and identified a heterozygous mutation in the EVC2 gene in all: the previously identified 3793delC mutation, and 2 novel mutations that occurred at the same nucleotide position, 3797T-G (<a href="#0012">607261.0012</a>) and 3797T-A (<a href="#0013">607261.0013</a>), both of which resulted in truncation of the protein at leu1266. All 3 mutations were tightly clustered at the 3-prime end of exon 22, indicating a mutation hotspot for this disorder. In vitro studies in NIH 3T3 cells showed that the Hedgehog signaling pathway is impaired in cells mimicking WAD mutations but is fully active in cells mimicking EVC syndrome mutations. This finding was in keeping with the manifestation of an affected phenotype in individuals heterozygous for WAD-related mutations but not in individuals heterozygous for EVC syndrome-related mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19810119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 patients with WAD, <a href="#3" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> also identified heterozygous mutations in exon 22 of the EVC2 gene: the previously identified 3793delC mutation and a novel nonsense mutation (G1269X; <a href="#0012">607261.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Chondrodysplastic dwarfism in Japanese brown cattle is an autosomal recessive disorder characterized by short limbs, joint abnormalities, and ateliosis (<a href="#7" class="mim-tip-reference" title="Moritomo, Y., Ishibashi, T., Miyamoto, H. <strong>Morphological changes of epiphyseal plate in the long bone of chondrodysplastic dwarfism in Japanese brown cattle.</strong> J. Vet. Med. Sci. 54: 453-459, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1643169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1643169</a>] [<a href="https://doi.org/10.1292/jvms.54.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1643169">Moritomo et al., 1992</a>). Long bones of the affected animals have insufficient endochondral ossification with irregularly arranged chondrocytes, abnormal formation of the cartilaginous matrix, and partial disappearance of the epiphyseal growth plates. The axial skeletal structures and craniofacial skeleton are not significantly affected. <a href="#18" class="mim-tip-reference" title="Yoneda, K., Moritomo, Y., Takami, M., Hirata, S., Kikukawa, Y., Kuneida, T. <strong>Localization of a locus responsible for the bovine chondrodysplastic dwarfism (bcd) on chromosome 6.</strong> Mammalian Genome 10: 597-600, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10341093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10341093</a>] [<a href="https://doi.org/10.1007/s003359901052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10341093">Yoneda et al. (1999)</a> mapped the Bcd gene to the distal end of bovine chromosome 6 in a region that shows homology of synteny to human chromosome 4p. They noted that several human chondrodystrophies, including the most frequent form, achondroplasia (<a href="/entry/100800">100800</a>), are localized to this region. However, in all of these disorders, the phenotype differs from that of Bcd. <a href="#15" class="mim-tip-reference" title="Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T. <strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong> Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.152337899" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12136126">Takeda et al. (2002)</a> narrowed the Bcd locus to a 2.4-cM region, constructed YAC and BAC contigs covering this region, and identified a gene, which they called limbin (Lbn), that is expressed in the epiphyseal growth plates of long bone. They identified causative mutations in the Lbn gene in calves affected with BCD. One mutation was a 1-bp substitution leading to inactivation of a cryptic splice donor site, and the other was a 1-bp deletion resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10341093+12136126+1643169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Murgiano, L., Jagannathan, V., Benazzi, C., Bolcato, M., Brunetti, B., Muscatello, L. V., Dittmer, K., Piffer, C., Gentile, A., Drogemuller, C. <strong>Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean grey cattle.</strong> PLoS One 9: e94861, 2014. Note: Electronic Article. Erratum: PLoS One 9: e102928, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24733244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24733244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24733244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0094861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24733244">Murgiano et al. (2014)</a> determined that chondrodysplastic dwarfism in Tyrolean grey cattle, also known as Grauvich or Alpine grey cattle, is an autosomal recessive disorder caused by a loss-of-function mutation in the EVC2 gene on chromosome 6. All affected calves were bright and alert but had difficulty rising and/or maintaining a quadrupedal stance and had a wobbling gait. The limbs were disproportionately short and bulky, variably rotated, and arched in a dumbbell-like position. The calves had moderate to severe joint laxity. The splanchnocranium, mandible, and palate were normal, as was the heart, and there was no polydactyly. The bones were not osteopenic and there were no fractures. The femur and humerus were the most severely shortened. Histopathologic examination of 2 affected calves revealed that the growth plate of long bones and vertebrae, which were grossly normal, was irregular. Affected female calves had abnormal genitalia, defined as precocious growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24733244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Consistent with Evc and Evc2 functioning as a complex, <a href="#2" class="mim-tip-reference" title="Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L. <strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong> Hum. Molec. Genet. 22: 124-139, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23026747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23026747</a>] [<a href="https://doi.org/10.1093/hmg/dds409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23026747">Caparros-Martin et al. (2013)</a> found that the skeletal phenotypes of Evc -/- or Evc2 -/- single mutants and Evc -/- Evc2 -/- double mutants were virtually indistinguishable. Smo translocation to the cilium was normal in Evc2 -/- chondrocytes following Hh activation; however, Gli3 (<a href="/entry/165240">165240</a>) recruitment to cilia tips was reduced and Sufu/Gli3 dissociation was impaired. Knockdown of Evc via short hairpin RNA in Sufu -/- mouse embryonic fibroblasts reduced mRNA and protein content of Gli1 and Gli2 (<a href="/entry/165230">165230</a>), suggesting that the Evc/Evc2 complex also promotes Hh signaling downstream of Sufu. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23026747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607261[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs753581033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753581033;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs753581033?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs753581033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs753581033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a consanguineous Gypsy pedigree, <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found that members with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) had a frameshift mutation (3660delC) in exon 22 of the gene they characterized and designated EVC2. The clinical features in affected individuals in this family included atrioventricular septal defects, mesomelic limb shortening with genu valgum, polydactyly with nail dysplasia, multiple oral frenula, and dysplastic teeth. Two affected individuals in earlier generations were said to have postaxial polydactyly and congenital heart defects but no other features of EVC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the Brazilian kindred originally reported by <a href="#4" class="mim-tip-reference" title="da Silva, E. O., Janovitz, D., de Albuquerque, S. C. <strong>Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.</strong> J. Med. Genet. 17: 349-356, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7218275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7218275</a>] [<a href="https://doi.org/10.1136/jmg.17.5.349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7218275">da Silva et al. (1980)</a>, <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found that individuals with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) had a 5-bp insertion in exon 1, 198insGGCGG. Clinical features in this family included atrial septal defect, short limb dysplasia with genu valgum, polydactyly, multiple oral frenula, oligodontia, and dysplastic teeth. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7218275+12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1265421045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1265421045;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1265421045?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1265421045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1265421045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a child with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) of second-cousin parents, who presented with short limb dysplasia, short ribs, postaxial polydactyly of the hands, dysplastic nails and teeth, and hyperplasia of the alveolar ridges and multiple oral frenula, as well as patent ductus arteriosus, <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> detected a frameshift (2056insC) in exon 14 of the EVC2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC2, ARG399TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852924;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852924?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003550 OR RCV000516144 OR RCV000578498 OR RCV000763528" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003550, RCV000516144, RCV000578498, RCV000763528" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003550...</a>
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<p>In a stillborn child with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) who had ventricular septal defect and short limbs with postaxial polydactyly of the hands and radiographic features typical of EVC, with short limbs and classic pelvic configuration, <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found an 1195C-T transition in exon 10 of the EVC2 gene that introduced a nonsense codon (arg399 to stop). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC2, GLN619TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852925;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852925?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003551 OR RCV001228211 OR RCV004719615" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003551, RCV001228211, RCV004719615" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003551...</a>
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<p>In an Ecuadorian family in which 2 daughters had Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) , <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found an 1855C-T transition in exon 12 of the EVC2 gene creating a nonsense codon (gln619 to stop). Both had disproportionate short stature with acromesomelic limb shortening and short ribs. In the hands, there was postaxial polydactyly with nail dysplasia and fusion of the hamate and capitate. Both had oligodontia with dysplastic teeth and multiple oral frenula. One of the girls had genu valgum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC2, ILE283ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852926;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852926?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003552" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003552" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003552</a>
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<p>In a family with 2 sibs with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>), <a href="#11" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> found a missense mutation, ile283 to arg (I283R), in exon 7 of the EVC2 gene that was not present in 100 control chromosomes. Both affected sibs had ostium primum atrial septal defects with short limb dysplasia, postaxial polydactyly of the hands, and nail and tooth dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ELLIS-VAN CREVELD SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852927;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852927?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003553 OR RCV000799858 OR RCV001265673 OR RCV005054132" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003553, RCV000799858, RCV001265673, RCV005054132" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003553...</a>
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<p>In a boy with Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>), who was born to Ashkenazi Jewish parents, <a href="#6" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a> identified homozygosity for 2 mutations in the EVC2 gene: a 3754C-T transition in exon 18 resulting in a gln1009-to-ter (Q1009X) substitution, and a 3337C-T transition in exon 17 resulting in an arg870-to-trp (R870W; <a href="#0008">607261.0008</a>) substitution. The parents were heterozygous for both mutations. Neither mutation was identified in a panel of 319 control Ashkenazi DNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<strong>.0008 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC2, ARG870TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852928 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852928;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852928?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852928" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003554 OR RCV001244422 OR RCV005054133" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003554, RCV001244422, RCV005054133" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003554...</a>
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<p>For discussion of the arg870-to-trp (R870W) mutation in the EVC2 gene that was found in homozygosity with another homozygous EVC2 mutation in a family segregating Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) by <a href="#6" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a>, see <a href="#0007">607261.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776568 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776568;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003555" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003555" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003555</a>
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<p>In affected members of a Chinese family with autosomal dominant Weyers acrofacial dysostosis (<a href="/entry/193530">193530</a>), <a href="#17" class="mim-tip-reference" title="Ye, X., Song, G., Fan, M., Shi, L., Jabs, E. W., Huang, S., Guo, R., Bian, Z. <strong>A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.</strong> Hum. Genet. 119: 199-205, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16404586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16404586</a>] [<a href="https://doi.org/10.1007/s00439-005-0129-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16404586">Ye et al. (2006)</a> identified a heterozygous 1-bp deletion (3793delC) in exon 22 of the EVC2 gene, resulting in a frameshift and premature stop at codon 1266. The mutation was not identified in 300 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16404586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family segregating Weyers acrofacial dysostosis, <a href="#16" class="mim-tip-reference" title="Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Antonio, P. A., Temtamy, S., Aglan, M., Goodship, J. A., Ruiz-Perez, V. L. <strong>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.</strong> Hum. Mutat. 30: 1667-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19810119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19810119</a>] [<a href="https://doi.org/10.1002/humu.21117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19810119">Valencia et al. (2009)</a> identified heterozygosity for the 3793delC mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19810119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> identified the same heterozygous mutation in another patient with Weyers acrofacial dysostosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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EVC2, IVS5, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1302074641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1302074641;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1302074641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1302074641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023641" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023641" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023641</a>
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<p>In a 6-year-old Chinese girl with mild Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>), <a href="#12" class="mim-tip-reference" title="Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H. <strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong> Am. J. Med. Genet. 155A: 2131-2136, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>] [<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815252">Shen et al. (2011)</a> identified compound heterozygosity for an A-G transition in intron 5 (IVS5-2A-G) of the EVC2 gene, predicted to cause exon skipping and result in a truncated protein, and a 2653C-T transition in exon 15, resulting in an arg884-to-ter (R884X; <a href="#0011">607261.0011</a>) substitution. The unaffected parents were each heterozygous for 1 of the mutations, respectively; neither mutation was found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 ELLIS-VAN CREVELD SYNDROME</strong>
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EVC2, ARG884TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs146538906 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146538906;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs146538906?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs146538906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs146538906" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023642 OR RCV001852025" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023642, RCV001852025" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023642...</a>
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<p>For discussion of the arg884-to-ter (R884X) mutation in the EVC2 gene that was found in compound heterozygous state in a patient with mild Ellis-van Creveld syndrome (<a href="/entry/225500">225500</a>) by <a href="#12" class="mim-tip-reference" title="Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H. <strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong> Am. J. Med. Genet. 155A: 2131-2136, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>] [<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815252">Shen et al. (2011)</a>, see <a href="#0010">607261.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577093161 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577093161;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1577093161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1577093161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000088667 OR RCV003764801" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000088667, RCV003764801" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000088667...</a>
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<p>In affected members of a family segregating Weyers acrofacial dysostosis (<a href="/entry/193530">193530</a>), previously reported by <a href="#19" class="mim-tip-reference" title="Zannolli, R., Buoni, S., Viviano, M., Macucci, F., D'Ambrosio, A., Livi, W., Mazzei, M. A., Mazzei, F., Sacco, P., Volterrani, L., Vonella, G., Orsi, A., Zapella, M., Hayek, J. <strong>Polydactyly with ectodermal defect, osteopenia, and mental delay.</strong> J. Child Neurol. 23: 683-689, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18182642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18182642</a>] [<a href="https://doi.org/10.1177/0883073807309778" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18182642">Zannolli et al. (2008)</a>, <a href="#16" class="mim-tip-reference" title="Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Antonio, P. A., Temtamy, S., Aglan, M., Goodship, J. A., Ruiz-Perez, V. L. <strong>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.</strong> Hum. Mutat. 30: 1667-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19810119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19810119</a>] [<a href="https://doi.org/10.1002/humu.21117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19810119">Valencia et al. (2009)</a> identified a heterozygous 3797T-G transversion in exon 22 of the EVC2 gene, which resulted in truncation of the protein at Leu1266. Two affected members of the family also had mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18182642+19810119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 WEYERS ACROFACIAL DYSOSTOSIS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577093161 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577093161;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1577093161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1577093161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000088668" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000088668" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000088668</a>
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<p>In a patient with Weyers acrofacial dysostosis (<a href="/entry/193530">193530</a>), <a href="#16" class="mim-tip-reference" title="Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Antonio, P. A., Temtamy, S., Aglan, M., Goodship, J. A., Ruiz-Perez, V. L. <strong>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.</strong> Hum. Mutat. 30: 1667-1675, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19810119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19810119</a>] [<a href="https://doi.org/10.1002/humu.21117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19810119">Valencia et al. (2009)</a> identified a heterozygous 3797T-A transversion in exon 22 of the EVC2 gene, which resulted in truncation of the protein at Leu1266. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19810119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 WEYERS ACROFACIAL DYSOSTOSIS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1560121645 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1560121645;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1560121645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1560121645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000088669" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000088669" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000088669</a>
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<p>In a patient with Weyers acrofacial dysostosis (<a href="/entry/193530">193530</a>), <a href="#3" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> identified a heterozygous 3805G-T transversion in exon 22 of the EVC2 gene, resulting in a gly1269-to-ter (G1269X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Adachi2002" class="mim-anchor"></a>
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Adachi, N., Lieber, M. R.
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[<a href="https://doi.org/10.1016/s0092-8674(02)00758-4" target="_blank">Full Text</a>]
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Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L.
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<strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong>
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Hum. Molec. Genet. 22: 124-139, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23026747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23026747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23026747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds409" target="_blank">Full Text</a>]
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D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A.
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<strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong>
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Europ. J. Med. Genet. 56: 80-87, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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da Silva, E. O., Janovitz, D., de Albuquerque, S. C.
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<strong>Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7218275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7218275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7218275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.17.5.349" target="_blank">Full Text</a>]
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Dorn, K. V., Hughes, C. E., Rohatgi, R.
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<strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong>
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Dev. Cell 23: 823-835, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981989</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981989[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2012.07.004" target="_blank">Full Text</a>]
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Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I.
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Molec. Genet. Metab. 77: 291-295, 2002.
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[<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank">Full Text</a>]
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Moritomo, Y., Ishibashi, T., Miyamoto, H.
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[<a href="https://doi.org/10.1292/jvms.54.453" target="_blank">Full Text</a>]
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Murgiano, L., Jagannathan, V., Benazzi, C., Bolcato, M., Brunetti, B., Muscatello, L. V., Dittmer, K., Piffer, C., Gentile, A., Drogemuller, C.
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<strong>Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean grey cattle.</strong>
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PLoS One 9: e94861, 2014. Note: Electronic Article. Erratum: PLoS One 9: e102928, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24733244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24733244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24733244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24733244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0094861" target="_blank">Full Text</a>]
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<a id="Platzer1997" class="mim-anchor"></a>
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Platzer, M., Rotman, G., Bauer, D., Uziel, T., Savitsky, K., Bar-Shira, A., Gilad, S., Shiloh, Y., Rosenthal, A.
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[<a href="https://doi.org/10.1101/gr.7.6.592" target="_blank">Full Text</a>]
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<a id="Pusapati2014" class="mim-anchor"></a>
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Pusapati, G. V., Hughes, C. E., Dorn, K. V., Zhang, D., Sugianto, P., Aravind, L., Rohatgi, R.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24582806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24582806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24582806[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24582806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2014.01.021" target="_blank">Full Text</a>]
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<a id="Ruiz-Perez2003" class="mim-anchor"></a>
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<div class="">
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Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A.
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<strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/368063" target="_blank">Full Text</a>]
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Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H.
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<strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong>
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Am. J. Med. Genet. 155A: 2131-2136, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Shimada1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimada, T., Fujii, H., Lin, H.
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<strong>A 165-base pair sequence between the dihydrofolate reductase gene and the divergently transcribed upstream gene is sufficient for bidirectional transcriptional activity.</strong>
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J. Biol. Chem. 264: 20171-20174, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2584212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2584212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2584212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Sund2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., Benson, D. W.
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<strong>Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.</strong>
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Hum. Molec. Genet. 18: 1813-1824, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19251731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19251731</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19251731[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19251731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp098" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Takeda2002" class="mim-anchor"></a>
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<div class="">
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Takeda, H., Takami, M., Oguni, T., Tsuji, T., Yoneda, K., Sato, H., Ihara, N., Itoh, T., Kata, S. R., Mishina, Y., Womack, J. E., Moritomo, Y., Sugimoto, Y., Kunieda, T.
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<strong>Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.</strong>
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Proc. Nat. Acad. Sci. 99: 10549-10554, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12136126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12136126</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12136126[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12136126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.152337899" target="_blank">Full Text</a>]
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<a id="Valencia2009" class="mim-anchor"></a>
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Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Antonio, P. A., Temtamy, S., Aglan, M., Goodship, J. A., Ruiz-Perez, V. L.
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<strong>Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer (sic) variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.</strong>
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Hum. Mutat. 30: 1667-1675, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19810119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19810119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19810119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21117" target="_blank">Full Text</a>]
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<a id="Ye2006" class="mim-anchor"></a>
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Ye, X., Song, G., Fan, M., Shi, L., Jabs, E. W., Huang, S., Guo, R., Bian, Z.
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<strong>A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.</strong>
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Hum. Genet. 119: 199-205, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16404586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16404586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16404586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-005-0129-2" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Yoneda1999" class="mim-anchor"></a>
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Yoneda, K., Moritomo, Y., Takami, M., Hirata, S., Kikukawa, Y., Kuneida, T.
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<strong>Localization of a locus responsible for the bovine chondrodysplastic dwarfism (bcd) on chromosome 6.</strong>
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Mammalian Genome 10: 597-600, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10341093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10341093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10341093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359901052" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Zannolli2008" class="mim-anchor"></a>
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Zannolli, R., Buoni, S., Viviano, M., Macucci, F., D'Ambrosio, A., Livi, W., Mazzei, M. A., Mazzei, F., Sacco, P., Volterrani, L., Vonella, G., Orsi, A., Zapella, M., Hayek, J.
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<strong>Polydactyly with ectodermal defect, osteopenia, and mental delay.</strong>
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J. Child Neurol. 23: 683-689, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18182642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18182642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18182642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1177/0883073807309778" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/16/2017
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 04/10/2017<br>Patricia A. Hartz - updated : 2/3/2014<br>Marla J. F. O'Neill - updated : 9/30/2011<br>George E. Tiller - updated : 2/24/2010<br>Cassandra L. Kniffin - updated : 5/16/2006<br>Ada Hamosh - updated : 4/15/2003<br>Victor A. McKusick - updated : 2/26/2003
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Victor A. McKusick : 9/26/2002
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alopez : 01/03/2023
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carol : 11/21/2022<br>carol : 10/31/2019<br>carol : 08/28/2017<br>carol : 08/16/2017<br>carol : 04/10/2017<br>carol : 05/08/2015<br>mcolton : 5/5/2015<br>carol : 2/4/2014<br>mgross : 2/3/2014<br>carol : 2/3/2014<br>mcolton : 1/31/2014<br>mcolton : 1/31/2014<br>carol : 8/5/2013<br>carol : 6/4/2013<br>carol : 9/30/2011<br>terry : 9/30/2011<br>wwang : 2/24/2010<br>wwang : 5/22/2006<br>ckniffin : 5/16/2006<br>terry : 3/24/2004<br>carol : 3/5/2004<br>alopez : 11/12/2003<br>tkritzer : 5/7/2003<br>alopez : 4/17/2003<br>alopez : 4/17/2003<br>terry : 4/15/2003<br>terry : 3/12/2003<br>alopez : 2/27/2003<br>terry : 2/26/2003<br>mgross : 9/27/2002<br>carol : 9/26/2002
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EVC CILIARY COMPLEX SUBUNIT 2; EVC2
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LIMBIN; LBN
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EVC2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 277807007, 62501005;
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<strong>ICD10CM:</strong> Q77.6;
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<strong>ICD9CM:</strong> 756.55;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 4p16.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:5,529,011-5,709,548 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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|
Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
|
4p16.2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Ellis-van Creveld syndrome
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</span>
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</td>
|
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<td>
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|
<span class="mim-font">
|
|
225500
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Weyers acrofacial dysostosis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
193530
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|
</span>
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|
</td>
|
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
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|
</span>
|
|
</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>EVC (604831) and EVC2 are single-pass type I transmembrane proteins. They constitutively associate with each other in a ring-like pattern near the ciliary transition zone, a protein barrier between the ciliary and plasma membranes. EVC and EVC2 function by transducing extracellular signals to the nucleus via the hedgehog (see SHH, 600725) signaling pathway (Dorn et al., 2012). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Takeda et al. (2002) identified a bovine gene, which they called limbin (Lbn), that is expressed in the epiphyseal growth plates of long bone. By cDNA cloning, RT-PCR, and RACE, Takeda et al. (2002) isolated the human and mouse LBN genes. The predicted 1,228-amino acid human protein and the 1,220-amino acid mouse protein share 79% and 68% homology with the bovine lbn protein, respectively. A putative transmembrane domain, 2 coiled-coil domains, and 3 nuclear localization signals are conserved between the human, mouse, and bovine proteins. Northern blot analysis of mouse tissues detected a 4.5-kb transcript in long bone, cranial bone, kidney, and heart, and expression was detected in embryos at days 7, 11, 15, and 17. In situ hybridization revealed strong expression of Lbn in limb buds of developing mouse embryos and in proliferating chondrocytes and bone-forming osteoblasts in long bones. Takeda et al. (2002) concluded that LBN has an essential role in skeletal development. </p><p>Galdzicka et al. (2002) independently cloned the EVC2 gene and found that the transcription start sites of EVC and EVC2 are separated by only 1,643 basepairs. Northern blot analysis of EVC2 showed a single major band of 4.8 kb in heart, placenta, lung, liver, skeletal muscle, kidney, and pancreas. A transcript of 4.8 kb was also found by RT-PCR in lymphoblasts and chondrocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Galdzicka et al. (2002) determined that the EVC2 gene contains of 23 exons. There are at least 3 alternate transcription start sites, and exon 1 is not translated, with the first ATG of the open reading frame occurring in exon 2. There are 2 transcripts with alternative 3-prime ends, one including exon 22A and the other including exons 22B and 23B. Exons 16 and 18 are also subject to alternative splicing and have tissue-specific shorter and longer versions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Takeda et al. (2002) mapped the EVC2 gene to chromosome 4p16. </p><p>Ruiz-Perez et al. (2003) found that the EVC and EVC2 genes are arranged in a divergent configuration with transcription start sites separated by 2,624 bp in the human and 1,647 bp in mouse. Adachi and Lieber (2002) had concluded that such head-to-head configurations may be a common feature of the human genome. Shimada et al. (1989) and Platzer et al. (1997) gave examples of coregulation by a single promoter with bidirectional activity. </p><p>Ruiz-Perez et al. (2003) found no obvious similarities between EVC and EVC2, and, other than the predicted transmembrane domains, there were no motifs giving clues to their function. Ruiz-Perez et al. (2003) pointed out that EVC and EVC2 lie within a syntenic region with conserved gene order and transcription orientation encompassing NSG1 (607645), STX18 (606046), MSX1 (142983), and C17. The gene encoding collapsin response mediator protein-1 (CRMP1; 602462) lies immediately adjacent to the EVC gene on the opposite side of EVC2 where its 3-prime end overlaps with the 3-prime end of EVC, i.e., in tail-to-tail orientation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Sund et al. (2009) carried out in situ hybridization and immunofluorescence studies in mouse tissues and whole embryos and found colocalization of Evc and Evc2 mRNA and protein. In developing mouse heart, expression was strongest in the secondary heart field, including both the outflow tract and the dorsal mesenchymal protrusion, but was also found in mesenchymal structures of the atrial septum and the atrioventricular cushions. There was no evidence of direct transcriptional interregulation between the 2 genes. Due to the locus heterogeneity of human mutations predicted to result in a loss of protein function, a bidirectional genomic organization and overlapping expression patterns, Sund et al. (2009) speculated that these proteins may function coordinately in cardiac development and that loss of this coordinate function may result in the characteristics of Ellis-van Creveld syndrome (225500). </p><p>Using mouse fibroblasts, Dorn et al. (2012) found that knockdown of Evc2 did not affect cilia formation but inhibited activated Shh induction of Gli1 (165220), which is a direct hedgehog (Hh) target. Knockdown of Evc2 also blocked Hh-induced differentiation of mouse mesenchymal cells into osteoblasts. C-terminal truncation of Evc2 or mutation of a phe-val (FV) motif near the C terminus abrogated targeting of Evc2 to the base of cilia, caused redistribution of Evc2 along the entire length of the ciliary membrane, and functioned as a dominant-negative inhibitor of Hh signaling. Upon Hh activation, Evc2 and Evc also transiently interacted with activated Smo (SMOH; 601500), a transducer of Hh signaling. Knockdown of Evc2 blunted Smo-dependent recruitment of downstream Sufu (607035) and Gli proteins to the tips of primary cilia. Dorn et al. (2012) concluded that EVC proteins are transducers of Hh signals and further hypothesized that mutations in these proteins that are associated with EVC syndrome are nonfunctional because they fail to localize to cilia. In contrast, truncating mutations linked to Weyers acrofacial dysostosis (193530) interfere in a dominant-negative manner with Hh signaling because truncated proteins mislocalize throughout the ciliary membrane. </p><p>Independently, Caparros-Martin et al. (2013) found that mouse Evc and Evc2 coimmunoprecipitated with Smo following Hh activation in transfected HEK293 cells. The 3 proteins colocalized at the base of cilia following Hh activation. Complexes containing C-terminally truncated Evc2 also interacted with Smo, but they were abnormally distributed along the entire length of the cilium in the presence or absence of Hh activation and inhibited Hh signaling. </p><p>Using mouse NIH 3T3 cells Pusapati et al. (2014) found that Iqce (617632) coimmunoprecipitated with Efcab7 (617631), Evc, and Evc2. The tetramer was made up of Iqce-Efcab7 and Evc-Evc2 subcomplexes, and the subcomplexes were linked via an Efcab7-Evc2 bridge. In the absence of Iqce and Efcab7, Evc and Evc2 mislocalized from the base of cilia, dispersed throughout the ciliary membrane, and failed to propagate a Hedgehog signal. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Ellis-van Creveld syndrome of Ashkenazi Jewish origin, Galdzicka et al. (2002) identified 2 homozygous mutations in the EVC2 gene; see 607261.0007. </p><p>Ruiz-Perez et al. (2003) identified an individual with Ellis-van Creveld syndrome in a consanguineous Gypsy pedigree who had a shorter region of homozygosity, excluding MSX1, and did not have an EVC mutation. Examination of the human and mouse databases showed several genes of particular interest in the narrowed critical region identified by study of the Gypsy family. Of particular interest among the genes in the critical region was EVC2, mutated in its bovine homolog in bovine chondrodysplastic dwarfism (Takeda et al., 2002). Ruiz-Perez et al. (2003) performed 5-prime RACE in adult human kidney RNA, using gene-specific primers. The RACE product, confirmed by RT-PCR, showed an additional GC-rich exon containing an in-frame AUG with loss of the open reading frame 21 nucleotides upstream. This additional sequence had homology to the N-terminus of the murine ortholog. Ruiz-Perez et al. (2003) aligned the extended cDNA against the human genome sequence to design primers to amplify the 22 coding exons in 7 consanguineous probands. They found 5 truncating mutations and a missense change in the EVC2 gene. In the seventh consanguineous pedigree, they identified no mutation. </p><p>Ye et al. (2006) identified a heterozygous 1-bp deletion in exon 22 of the EVC2 gene (3793delC; 607261.0009) in affected members of a Chinese family with autosomal dominant Weyers acrofacial dysostosis (WAD; 193530) spanning 5 generations. The findings confirmed that the disorder is allelic to Ellis-van Creveld syndrome. </p><p>In a 6-year-old Chinese girl with mild Ellis-van Creveld syndrome, Shen et al. (2011) identified compound heterozygosity for a splice site and a missense mutation in the EVC2 gene (607261.0010-607261.0011). The authors noted that all 3 Weyers acrofacial dysostosis-associated mutations reported to date were located in exon 22 of EVC2, whereas this patient's mutations were in IVS5 and exon 15. </p><p>Valencia et al. (2009) performed direct analysis of the EVC and EVC2 genes in 3 patients with Weyers acrofacial dysostosis and identified a heterozygous mutation in the EVC2 gene in all: the previously identified 3793delC mutation, and 2 novel mutations that occurred at the same nucleotide position, 3797T-G (607261.0012) and 3797T-A (607261.0013), both of which resulted in truncation of the protein at leu1266. All 3 mutations were tightly clustered at the 3-prime end of exon 22, indicating a mutation hotspot for this disorder. In vitro studies in NIH 3T3 cells showed that the Hedgehog signaling pathway is impaired in cells mimicking WAD mutations but is fully active in cells mimicking EVC syndrome mutations. This finding was in keeping with the manifestation of an affected phenotype in individuals heterozygous for WAD-related mutations but not in individuals heterozygous for EVC syndrome-related mutations. </p><p>In 2 patients with WAD, D'Asdia et al. (2013) also identified heterozygous mutations in exon 22 of the EVC2 gene: the previously identified 3793delC mutation and a novel nonsense mutation (G1269X; 607261.0012). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Chondrodysplastic dwarfism in Japanese brown cattle is an autosomal recessive disorder characterized by short limbs, joint abnormalities, and ateliosis (Moritomo et al., 1992). Long bones of the affected animals have insufficient endochondral ossification with irregularly arranged chondrocytes, abnormal formation of the cartilaginous matrix, and partial disappearance of the epiphyseal growth plates. The axial skeletal structures and craniofacial skeleton are not significantly affected. Yoneda et al. (1999) mapped the Bcd gene to the distal end of bovine chromosome 6 in a region that shows homology of synteny to human chromosome 4p. They noted that several human chondrodystrophies, including the most frequent form, achondroplasia (100800), are localized to this region. However, in all of these disorders, the phenotype differs from that of Bcd. Takeda et al. (2002) narrowed the Bcd locus to a 2.4-cM region, constructed YAC and BAC contigs covering this region, and identified a gene, which they called limbin (Lbn), that is expressed in the epiphyseal growth plates of long bone. They identified causative mutations in the Lbn gene in calves affected with BCD. One mutation was a 1-bp substitution leading to inactivation of a cryptic splice donor site, and the other was a 1-bp deletion resulting in a frameshift. </p><p>Murgiano et al. (2014) determined that chondrodysplastic dwarfism in Tyrolean grey cattle, also known as Grauvich or Alpine grey cattle, is an autosomal recessive disorder caused by a loss-of-function mutation in the EVC2 gene on chromosome 6. All affected calves were bright and alert but had difficulty rising and/or maintaining a quadrupedal stance and had a wobbling gait. The limbs were disproportionately short and bulky, variably rotated, and arched in a dumbbell-like position. The calves had moderate to severe joint laxity. The splanchnocranium, mandible, and palate were normal, as was the heart, and there was no polydactyly. The bones were not osteopenic and there were no fractures. The femur and humerus were the most severely shortened. Histopathologic examination of 2 affected calves revealed that the growth plate of long bones and vertebrae, which were grossly normal, was irregular. Affected female calves had abnormal genitalia, defined as precocious growth. </p><p>Consistent with Evc and Evc2 functioning as a complex, Caparros-Martin et al. (2013) found that the skeletal phenotypes of Evc -/- or Evc2 -/- single mutants and Evc -/- Evc2 -/- double mutants were virtually indistinguishable. Smo translocation to the cilium was normal in Evc2 -/- chondrocytes following Hh activation; however, Gli3 (165240) recruitment to cilia tips was reduced and Sufu/Gli3 dissociation was impaired. Knockdown of Evc via short hairpin RNA in Sufu -/- mouse embryonic fibroblasts reduced mRNA and protein content of Gli1 and Gli2 (165230), suggesting that the Evc/Evc2 complex also promotes Hh signaling downstream of Sufu. </p>
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</span>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>14 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
EVC2, 1-BP DEL, 3660C
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<br />
|
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|
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SNP: rs753581033,
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|
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gnomAD: rs753581033,
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|
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|
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ClinVar: RCV000669358, RCV001214869, RCV001553071
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Gypsy pedigree, Ruiz-Perez et al. (2003) found that members with Ellis-van Creveld syndrome (225500) had a frameshift mutation (3660delC) in exon 22 of the gene they characterized and designated EVC2. The clinical features in affected individuals in this family included atrioventricular septal defects, mesomelic limb shortening with genu valgum, polydactyly with nail dysplasia, multiple oral frenula, and dysplastic teeth. Two affected individuals in earlier generations were said to have postaxial polydactyly and congenital heart defects but no other features of EVC. </p>
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|
</span>
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</div>
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<div>
|
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<br />
|
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</div>
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|
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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EVC2, 5-BP INS, NT198
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|
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<br />
|
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|
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SNP: rs992326794,
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|
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ClinVar: RCV000672336, RCV001868263
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|
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</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In the Brazilian kindred originally reported by da Silva et al. (1980), Ruiz-Perez et al. (2003) found that individuals with Ellis-van Creveld syndrome (225500) had a 5-bp insertion in exon 1, 198insGGCGG. Clinical features in this family included atrial septal defect, short limb dysplasia with genu valgum, polydactyly, multiple oral frenula, oligodontia, and dysplastic teeth. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
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EVC2, 1-BP INS, 2056C
|
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<br />
|
|
|
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SNP: rs1265421045,
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|
|
|
gnomAD: rs1265421045,
|
|
|
|
|
|
ClinVar: RCV000003549, RCV001070497
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a child with Ellis-van Creveld syndrome (225500) of second-cousin parents, who presented with short limb dysplasia, short ribs, postaxial polydactyly of the hands, dysplastic nails and teeth, and hyperplasia of the alveolar ridges and multiple oral frenula, as well as patent ductus arteriosus, Ruiz-Perez et al. (2003) detected a frameshift (2056insC) in exon 14 of the EVC2 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 ELLIS-VAN CREVELD SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EVC2, ARG399TER
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<br />
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SNP: rs137852924,
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gnomAD: rs137852924,
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ClinVar: RCV000003550, RCV000516144, RCV000578498, RCV000763528
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a stillborn child with Ellis-van Creveld syndrome (225500) who had ventricular septal defect and short limbs with postaxial polydactyly of the hands and radiographic features typical of EVC, with short limbs and classic pelvic configuration, Ruiz-Perez et al. (2003) found an 1195C-T transition in exon 10 of the EVC2 gene that introduced a nonsense codon (arg399 to stop). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 ELLIS-VAN CREVELD SYNDROME</strong>
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</span>
|
|
</h4>
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</div>
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<div>
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<span class="mim-text-font">
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EVC2, GLN619TER
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<br />
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SNP: rs137852925,
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gnomAD: rs137852925,
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ClinVar: RCV000003551, RCV001228211, RCV004719615
|
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|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Ecuadorian family in which 2 daughters had Ellis-van Creveld syndrome (225500) , Ruiz-Perez et al. (2003) found an 1855C-T transition in exon 12 of the EVC2 gene creating a nonsense codon (gln619 to stop). Both had disproportionate short stature with acromesomelic limb shortening and short ribs. In the hands, there was postaxial polydactyly with nail dysplasia and fusion of the hamate and capitate. Both had oligodontia with dysplastic teeth and multiple oral frenula. One of the girls had genu valgum. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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|
</div>
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|
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|
</div>
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|
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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|
EVC2, ILE283ARG
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|
<br />
|
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|
|
SNP: rs137852926,
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|
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|
|
|
gnomAD: rs137852926,
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|
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|
|
|
ClinVar: RCV000003552
|
|
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|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with 2 sibs with Ellis-van Creveld syndrome (225500), Ruiz-Perez et al. (2003) found a missense mutation, ile283 to arg (I283R), in exon 7 of the EVC2 gene that was not present in 100 control chromosomes. Both affected sibs had ostium primum atrial septal defects with short limb dysplasia, postaxial polydactyly of the hands, and nail and tooth dysplasia. </p>
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
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|
|
|
EVC2, GLN1009TER
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|
<br />
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|
|
SNP: rs137852927,
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|
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|
|
|
gnomAD: rs137852927,
|
|
|
|
|
|
ClinVar: RCV000003553, RCV000799858, RCV001265673, RCV005054132
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with Ellis-van Creveld syndrome (225500), who was born to Ashkenazi Jewish parents, Galdzicka et al. (2002) identified homozygosity for 2 mutations in the EVC2 gene: a 3754C-T transition in exon 18 resulting in a gln1009-to-ter (Q1009X) substitution, and a 3337C-T transition in exon 17 resulting in an arg870-to-trp (R870W; 607261.0008) substitution. The parents were heterozygous for both mutations. Neither mutation was identified in a panel of 319 control Ashkenazi DNAs. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, ARG870TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852928,
|
|
|
|
|
|
gnomAD: rs137852928,
|
|
|
|
|
|
ClinVar: RCV000003554, RCV001244422, RCV005054133
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg870-to-trp (R870W) mutation in the EVC2 gene that was found in homozygosity with another homozygous EVC2 mutation in a family segregating Ellis-van Creveld syndrome (225500) by Galdzicka et al. (2002), see 607261.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 WEYERS ACROFACIAL DYSOSTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, 1-BP DEL, 3793C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587776568,
|
|
|
|
|
|
|
|
ClinVar: RCV000003555
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Chinese family with autosomal dominant Weyers acrofacial dysostosis (193530), Ye et al. (2006) identified a heterozygous 1-bp deletion (3793delC) in exon 22 of the EVC2 gene, resulting in a frameshift and premature stop at codon 1266. The mutation was not identified in 300 control chromosomes. </p><p>In affected members of a family segregating Weyers acrofacial dysostosis, Valencia et al. (2009) identified heterozygosity for the 3793delC mutation. </p><p>D'Asdia et al. (2013) identified the same heterozygous mutation in another patient with Weyers acrofacial dysostosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, IVS5, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1302074641,
|
|
|
|
|
|
|
|
ClinVar: RCV000023641
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-year-old Chinese girl with mild Ellis-van Creveld syndrome (225500), Shen et al. (2011) identified compound heterozygosity for an A-G transition in intron 5 (IVS5-2A-G) of the EVC2 gene, predicted to cause exon skipping and result in a truncated protein, and a 2653C-T transition in exon 15, resulting in an arg884-to-ter (R884X; 607261.0011) substitution. The unaffected parents were each heterozygous for 1 of the mutations, respectively; neither mutation was found in 200 control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 ELLIS-VAN CREVELD SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, ARG884TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs146538906,
|
|
|
|
|
|
gnomAD: rs146538906,
|
|
|
|
|
|
ClinVar: RCV000023642, RCV001852025
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg884-to-ter (R884X) mutation in the EVC2 gene that was found in compound heterozygous state in a patient with mild Ellis-van Creveld syndrome (225500) by Shen et al. (2011), see 607261.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 WEYERS ACROFACIAL DYSOSTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, 3797T-G, LEU1266TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1577093161,
|
|
|
|
|
|
|
|
ClinVar: RCV000088667, RCV003764801
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family segregating Weyers acrofacial dysostosis (193530), previously reported by Zannolli et al. (2008), Valencia et al. (2009) identified a heterozygous 3797T-G transversion in exon 22 of the EVC2 gene, which resulted in truncation of the protein at Leu1266. Two affected members of the family also had mental retardation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 WEYERS ACROFACIAL DYSOSTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, 3797T-A, LEU1266TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1577093161,
|
|
|
|
|
|
|
|
ClinVar: RCV000088668
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Weyers acrofacial dysostosis (193530), Valencia et al. (2009) identified a heterozygous 3797T-A transversion in exon 22 of the EVC2 gene, which resulted in truncation of the protein at Leu1266. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 WEYERS ACROFACIAL DYSOSTOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EVC2, GLY1269TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1560121645,
|
|
|
|
|
|
|
|
ClinVar: RCV000088669
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Weyers acrofacial dysostosis (193530), D'Asdia et al. (2013) identified a heterozygous 3805G-T transversion in exon 22 of the EVC2 gene, resulting in a gly1269-to-ter (G1269X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adachi, N., Lieber, M. R.
|
|
<strong>Bidirectional gene organization: a common architectural feature of the human genome.</strong>
|
|
Cell 109: 807-809, 2002.
|
|
|
|
|
|
[PubMed: 12110178]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(02)00758-4]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caparros-Martin, J. A., Valencia, M., Reytor, E., Pacheco, M., Fernandez, M., Perez-Aytes, A., Gean, E., Lapunzina, P., Peters, H., Goodship, J. A., Ruiz-Perez, V. L.
|
|
<strong>The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.</strong>
|
|
Hum. Molec. Genet. 22: 124-139, 2013.
|
|
|
|
|
|
[PubMed: 23026747]
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|
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|
|
[Full Text: https://doi.org/10.1093/hmg/dds409]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A.
|
|
<strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong>
|
|
Europ. J. Med. Genet. 56: 80-87, 2013.
|
|
|
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|
|
[PubMed: 23220543]
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ejmg.2012.11.005]
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</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
da Silva, E. O., Janovitz, D., de Albuquerque, S. C.
|
|
<strong>Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.</strong>
|
|
J. Med. Genet. 17: 349-356, 1980.
|
|
|
|
|
|
[PubMed: 7218275]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.17.5.349]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Dorn, K. V., Hughes, C. E., Rohatgi, R.
|
|
<strong>A smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.</strong>
|
|
Dev. Cell 23: 823-835, 2012.
|
|
|
|
|
|
[PubMed: 22981989]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.devcel.2012.07.004]
|
|
|
|
|
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</p>
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